Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,410 | 250 | 1,146 |
| Samples | 1,138 | 214 | 911 |
| Peptides | 904 | 156 | 781 |
Function
COL5A3 · Collagen type V alpha 3 chain
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000264828 | P25940 | 1,410 | 904 |
Gene Properties
Recurrent Mutations
All 904 amino-acid changes on canonical ENST00000264828 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in COL5A3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL5A3 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Melanoma | 34/210 16% | 219/1899 12% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 30/612 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Other Solid Cancers | 7/94 7% | 76/1515 5% |
| Unknown | 1/10 10% | 1/29 3% |
| Hodgkins Lymphoma | 3/16 19% | 3/122 2% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 31/810 4% |
| Colorectal Carcinoma | 24/143 17% | 109/3239 3% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 39/1390 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 25/956 3% |
| Neuroendocrine Tumour | 12/154 8% | 6/577 1% |
| Cervical Carcinoma | 0/35 0% | 11/422 3% |
| Thyroid Gland Carcinoma | 2/45 4% | 35/1592 2% |
| Chondrosarcoma | 0/14 0% | 2/75 3% |
| Gastric Carcinoma | 1/74 1% | 41/1809 2% |
| Other Sarcomas | 5/69 7% | 11/699 2% |
| Ovarian Carcinoma | 6/109 6% | 14/998 1% |
| Kidney Carcinoma | 6/85 7% | 29/1862 2% |
| Plasma Cell Myeloma | 3/44 7% | 3/305 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Ewings Sarcoma | 4/63 6% | 1/262 0% |
| Hepatocellular Carcinoma | 3/46 7% | 29/2210 1% |
| Non-Cancerous | 1/104 1% | 12/830 1% |
| Head and Neck Carcinoma | 2/85 2% | 21/1574 1% |
Mutation Distribution
Where COL5A3 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL5A3 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,410 mutations in COL5A3
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|